The Morris Kahn Laboratory of Human Genetics (Ben-Gurion University of the Negev), MKLHG-NIBN
General information
Personnel
- Ohad Wormser, Staff
Phone: +972-54-9980101
Email: [email protected] - Yuval Yogev, Staff
Phone: +972547375372
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 11
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BPTF | 1 | Feb 15, 2024 |
| C1GALT1C1 | 1 | Jun 24, 2023 |
| CEP63 | 1 | Mar 24, 2017 |
| DEGS1 | 1 | Apr 16, 2019 |
| EPHB1 | 1 | Mar 24, 2017 |
| HMGCR | 1 | Dec 13, 2022 |
| KY | 1 | Mar 24, 2017 |
| LOC126859908 | 1 | Mar 11, 2024 |
| NHEJ1 | 1 | Dec 30, 2022 |
| SCAPER | 1 | Jul 2, 2018 |
| THBS2 | 1 | Mar 11, 2024 |
| THBS2-AS1 | 1 | Mar 11, 2024 |
| TPM3 | 1 | Mar 29, 2022 |
| TRIM33 | 1 | Sep 23, 2024 |
| ZNF142 | 1 | Jun 27, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal speech pattern | 1 | Jul 2, 2018 |
| Atypical hemolytic-uremic syndrome | 1 | Jun 24, 2023 |
| Brachydactyly | 1 | Jul 2, 2018 |
| Congenital myopathy with fiber type disproportion | 1 | Mar 29, 2022 |
| Developmental dysplasia of the hip | 1 | Sep 23, 2024 |
| Ehlers-Danlos syndrome | 1 | Mar 11, 2024 |
| Hereditary spastic paraplegia | 1 | Mar 24, 2017 |
| Intellectual disability | 2 | Jun 27, 2019 |
| Isolated anophthalmia-microphthalmia syndrome | 1 | Dec 30, 2022 |
| Kaposi sarcoma | 1 | Feb 15, 2024 |
| Leukodystrophy | 1 | Apr 16, 2019 |
| Limb-girdle muscular dystrophy | 1 | Dec 13, 2022 |
| Obesity | 1 | Jul 2, 2018 |
| Pigmentary retinopathy | 1 | Jul 2, 2018 |
| Seizure | 1 | Jun 27, 2019 |
| Short stature | 1 | Jul 2, 2018 |